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Pitpna Gene Detail
Summary
  • Symbol
    Pitpna
  • Name
    phosphatidylinositol transfer protein, alpha
  • Synonyms
    Pitp alpha, PITPalpha, Pitpn
  • Feature Type
    protein coding gene
  • IDs
    MGI:99887
    NCBI Gene: 18738
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:75478923-75519630 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 45.92 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    843 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99887
 protein coding gene Chr11:75478889-75519630 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018718
 protein coding gene Chr11:76349433-76391683 (+)
A/J MGP_AJ_G0018684
 protein coding gene Chr11:73505951-73546474 (+)
AKR/J MGP_AKRJ_G0018654
 protein coding gene Chr11:75729801-75773688 (+)
BALB/cJ MGP_BALBcJ_G0018658
 protein coding gene Chr11:73877526-73925819 (+)
C3H/HeJ MGP_C3HHeJ_G0018471
 protein coding gene Chr11:75747666-75789975 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019109
 protein coding gene Chr11:78760654-78804820 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016744
 protein coding gene Chr11:70520650-70559893 (+)
CAST/EiJ MGP_CASTEiJ_G0018025
 protein coding gene Chr11:76145699-76187664 (+)
CBA/J MGP_CBAJ_G0018441
 protein coding gene Chr11:82205798-82249337 (+)
DBA/2J MGP_DBA2J_G0018550
 protein coding gene Chr11:73109359-73150165 (+)
FVB/NJ MGP_FVBNJ_G0018540
 protein coding gene Chr11:72671875-72712647 (+)
LP/J MGP_LPJ_G0018621
 protein coding gene Chr11:76930994-76974339 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018566
 protein coding gene Chr11:82750532-82794206 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019149
 protein coding gene Chr11:75942326-75988106 (+)
PWK/PhJ MGP_PWKPhJ_G0017796
 protein coding gene Chr11:73809477-73852747 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017587
 protein coding gene Chr11:75498688-75540198 (+)
WSB/EiJ MGP_WSBEiJ_G0018078
 protein coding gene Chr11:75753060-75799658 (+)



Homology
more
  • Human Ortholog
    PITPNA, phosphatidylinositol transfer protein alpha
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PITPNA, phosphatidylinositol transfer protein alpha
  • Synonyms
    HEL-S-36, PI-TPalpha, PITPN, VIB1A
  • Links
    NCBI Gene ID: 5306
    neXtProt AC: NX_Q00169
    UniProt: Q00169

  • Chr Location
    17p13.3; chr17:1517718-1562792 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pitpna mouse models

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    44 phenotypes from 3 alleles in 5 genetic backgrounds
    6 phenotypes from multigenic genotypes
    35 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations of this gene result in motor coordination abnormalities and early death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    708
  • Tissues
    1
  • cDNA Data
    199
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000017781 Ensembl Gene Model | MGI Sequence Detail 40708 C57BL/6J ±  kb
    transcript ENSMUST00000143219 Ensembl | MGI Sequence Detail 3761 Not Applicable  
    polypeptide ENSMUSP00000115723 Ensembl | MGI Sequence Detail 271 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 204
      Genomic 4
      cDNA 200

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-15382, MGD-MRK-16680, MGI:98924
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 11
      Phenotypes 35
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory